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A new study suggests that common variants influence neurodevelopmental disorder risk and the way the conditions manifestation themselves.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
The company plans to test both its current technology and explore novel signatures using samples from Mayo's biobank.
Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.
Q-State Biosciences, which focuses on neurologic disorders, will work closely with WuXi NextCode to relaunch Claritas' exome assays.
The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.
A study focused on rare CNVs unearthed a subset of Tourette cases affected by deletions in the NRXN1 gene or duplications in the CNTN6 gene.
The firm wants to develop a test that can provide objective, reliable, and rapid information so that clinicians can make critical decisions in circumstances of high uncertainty.
The Wall Street Journal reports that Russia's announcement of a coronavirus vaccine approval was met with concern as safety testing has not yet been completed.
New Scientist writes there aren't much data available on the accuracy of the two rapid COVID-19 tests the UK plans to roll out.
In PNAS this week: downstream effect of oncoprotein fusion, epigenetic changes influence tRNAs in colon cancer, and more.
Nature News reports that recent proposed changes to the US National Science Foundation have raised concerns about a shift away from the agency's focus on basic research.